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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA942381883
Gene: DRD2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1951475847
gnomAD v3:
11-113475457-T-TG
gnomAD v4:
11-113475457-T-TG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113475457_113475458insG , CM000673.2:g.113475457_113475458insG
GRCh38
NC_000011.9:g.113346179_113346180insG , CM000673.1:g.113346179_113346180insG
GRCh37
NC_000011.8:g.112851389_112851390insG
NCBI36
NG_008841.1:g.4822_4823insC
Transcript Alleles
HGVS
Amino-acid Change
ENST00000540600.5:n.34+200_34+201insC
Search 100 bp 5'
Search 100 bp 3'